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Dibasic aminoaciduria type 2

Dibasic aminoaciduria type 2 Causes

LPI is acquired through Genes,both parents of the patient may be carrier of the disease. There is no known cure of this disease but patient are restricted to protein diet and oral citruline supplementation (a neutral amino acid that promotes urea cycle) are advice to prevent and correct hyperammonemia.

Dibasic aminoaciduria type 2 Definition

Dibasic aminoaciduria type 2 also called lysinuric protein intolerance (LPI) or familial protein intolerance is an amino acid transport disorder. The excretion of cationic amino acid (composed of ornithine, arginine, and lysine) in the kidney is increase. Cationic amino acid is a kind of amino acid does not absorb well in the intestine. Deficiency of arginine and ornithine stops the urea cycle which will cause hyperammonemia after protein rich intake

Dibasic aminoaciduria type 2 Diagnosis

LPI disease is diagnose through biochemical examination of the urine and mutation gene testing from the DNA.

Dibasic aminoaciduria type 2 Symptoms and Signs

During infant, it is usually symptoms free when the patient is breastfed because human milk have low protein content but later the infant may vomit. The patient will also manifest failure to thrive, loss of appetite, enlargement of liver and spleen, growth retardation, degeneration of the bone may develop, delayed bone age and protein aversion. Convulsion and coma may happen if protein intake is continued.

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